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Invited Plenary Lecture

September, 27(Fri.) 13:00 ～ 13:50 Room 1Chair    Tohru Yorifuji（ Division of Pediatric Endocrinology and Metabolism, Children’s Medical 

Center, Osaka City General Hospital）

Congenital Hyperinsulinism: Past, Present, and FutureCharles A. Stanley, MD

The Hyperinsulinism Center, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine

KSPE-JSPE Plenary Lecture

September, 28(Sat.) 10:20 ～ 11:10 Room 1Chair     Tatsuhiko Urakami（ Department of Pediatrics and Child Health, Nihon Uiniversity School of 

Medicine）

Current central precocious puberty management in Korea, challenges and long-term outcomesYoung-Jun Rhie

Korea University College of Medicine, Seoul, Korea

Symposium 5 Updates in epigenetics：from rare to common disorders.

September, 27(Fri.) 16:20 ～ 17:40 Room 4Chairs   Tsutomu Ogata（Department of Pediatrics, Hamamatsu University School of Medicine） 

  Masanori Minagawa（Department of endocrinology, Chiba children's hospital）

S5-1 New imprinting disordersMasayo Kagami

Dept. of Mol Endocrinol., National Research Institute for Child Health and DevelopmentS5-2 Molecular mechanism of epigenome memory in early life and its impact on

health and disease conditions in later lifeYoshihiro Ogawa

Dept. of Med. & Bioregul. Sci., Grad. Sch. Med. Sci., Kyushu Univ.S5-3 Epigenetic modification induced by environment in utero and care of low

birth weight infantHideoki Fukuoka

Dept. of Progressive DOHaD Research , Fukushima Medical University

Meet the Expert

September, 27(Fri.) 8:20 ～ 9:20 Room 4ME4 How can we address the etiology of primary adrenal insufficiency?

Naoko Amano1,2, Misa Honda1

1Dept. of Pediatr., Keio Univ. Sch. of Med., 2Dept. of Pediatr., Saitama City Hosp.

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Information and Program in English

Luncheon Educational Seminar 8

September, 27(Fri.) 12:00 ～ 12:50 Room 4Chair    Reiko Horikawa（ Division of Endocrinology and Metabolism, National Center for Child Health 

and Development）

LS-8 Early life adversity and later life disease - the importance of choosing your parents carefully

Paul L HofmanLiggins Institute, University of Auckland

English Oral session 1

September, 27(Fri.) 9:30 ～ 10:30 Room 4Chairs   Kenji Ihara（Department of Pediatrics, Oita University School of Medicine） 

  Maki Fukami（ Department of Molecular Endocrinology, National Research Institute for Child Health Development）

EO1-1 C-type natriuretic peptide analogue therapy in children with achondroplasiaJonathan Day1, Ravi Savarirayan2, Melita Irving3, Carlos Bacino4, Bret Bostwick4,  Joel Charrow5, Valerie Cormier-Daire6, Kim Hanh Le Quan Sang6, Patricia Dickson7,  Paul Harmatz8, John Phillips9, Natalie Owen9, Anu Cherukuri10, Kala Jayaram10, George Jeha10,  Kevin Larimore10, Daniel Chan10, Alice Labed1, Julie Hoover-Fong11

1BioMarin Europe Ltd., London, UK, 2Murdoch Children's Research Institute, Parkville, Victoria, Australia, 3Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London, UK, 4Baylor College of Medicine, Houston, TX, USA, 5Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA, 6 Medical Genetics Department, Universite Paris Descartes-Sorbonne Paris Cite,  INSERM UMR, Paris, France, 

7 Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA, 

8UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA, 9Vanderbilt University Medical Center, Nashville, TN, USA, 10BioMarin Pharmaceutical Inc., Novato, CA, USA, 11Johns Hopkins University School of Medicine, Baltimore, MD, USA

EO1-2 Germline-derived gain-of-function variants of Gs α -coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis: the first reportMami Miyado1, Fukami Maki1, Matsubara Yoichi2, Tanaka Yoko3, Sasaki Goro3,  Nagasaki Keisuke4, Masunaga Yohei5, Saitsu Hirotomo6, Ogata Tsutomu1,5

1Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev., 2Head Office, Natl. Res. Inst. for Child Health and Dev., 3Dept. of Pediatr., Tokyo Dent. Coll. Ichikawa General Hosp., 4Dept. of Homeo. Regul. and Dev., Niigata Univ. Grad. Sch. of Med. and Dent. Sci., 5Dept. of Pediatr., Hamamatsu Univ. Sch. of Med., 6Dept. of Biochem., Hamamatsu Univ. Sch. of Med.

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EO1-3 MYRF is a novel causative gene for 46,XX and 46,XY disorders of sex developmentTsutomu Ogata1, Kohei Hamanaka2, Atsushi Takata2, Yuka Wada3, Sawako Minami4,  Yuko Katoh-Fukui5, Yohei Masunaga1, Maki Fukami5 Tomonobu Hasegawa6,  Naomichi Matsumoto2

1Dept. of Pediatr., Hamamatsu Univ. Sch. of Med., 2Dept. of Hum Genet, Yokohama City Univ. Graduate Sch. of Medicine, 3Dept. of Neonatol, Natl. Center for Child Health and Dev., 4Dept. of Obstet. Gynecol., Wakayama Med. Univ. Sch. Of Med., 5Dept. of Mol. Endocrinol. Natl. Res Inst. for Child Health and Dev., 6Dept. of Pediatr., Keio Univ. Sch. of Med.

EO1-4 Uterine environment regulates nurturing behavior in the offspring with prolactin as a key factorTaku Sairenji1,2, Shinnosuke Masuda1, Kwan Ee Oh1, Yoshiaki Ohtsu2, Hirokazu Arakawa2, Noriaki Shimokawa1,3, Noriyuki Koibuchi1

1Dept Intgr Physiol, Gunma Univ, Med Grad Sch, 2Dept of Pediatr. Gunma Univ, Med Grad Sch, 3Dept Nutr, Takasaki Univ Health Welf

EO1-5 SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosisKenichiro Ogushi1,2, Hirohito Shima1, Tomoko Jinno1, Mami Miyado1, Maki Fukami1,  Koji Muroya3

1Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Dev., 2Dept. of Pediatr., St. Marianna Univ. Sch. of Med., 3Dept. of Endocrinol. and Metabol., Kanagawa Children's Med. Cent.

EO1-6 The evaluation of pancreatic bata-cell secretory function in children with urine glucose positive in urinalysis screening at school : the utility of oral Disposition IndexAoi Taku1, Yukiyo Yamamoto1,2, Shimamoto Taro1, Tomomi Ikegami1, Mami Kuwamura1,  Reiko Saito1, Motohide Goto1, Kazuyasu Kubo1, Rinko Kawagoe1, Yasusada Kawada1,  Koichi Kusuhara1

1Dept. of Pediatr.,University of Occupational and Environmental Health, Japan, 2 Director  of Medical Education,  School  of Medicine, University  of Occupational  and Environmental Health, Japan

English Oral session 2

September, 27(Fri.) 10:45 ～ 11:35 Room 4Chairs   Sumito Dateki（Department of Pediatrics, Nagasaki University Graduate School of Biomedical  

       Sciences）   Yasuko Fujisawa（Department of Pediatrics, Hamamatsu University School of Medicine）

EO2-1 Modeling Congenital Hyperinsulinism with patient's specific iPS cells.Shirou Matsumoto1, Kenichi Tanaka2, Masanori Iwai2, Fusa Nagamatsu1, Rieko Sakamoto1,  Takaaki Sawada1, Hiroyo Mabe1, Fumio Endo1,3, Hiroshi Mitsubuchi2, Kimitoshi Nakamura1

1Dept. of Pediatr, Graduate Sch. of Med. Sci, Kumamoto University, 2Division of Neonatology, Kumamoto University Hospital, 3Kumamoto-Ezuko Medical Center for the Severely Disabled

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Information and Program in English

EO2-2 Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndromeHitomi Shimizu1,2, Satoshi Watanabe1, Akira Kinoshita2, Hiroyuki Mishima2, Gen Nishimura3, Hiroyuki Moriuchi1, Koh-ichiro Yoshiura2, Sumito Dateki1

1Dept. of Pediatr., Nagasaki Univ. Grad. Sch. of Biomed. Sci., 2Dept. of Hum. Genet., Nagasaki Univ. Grad. Sch. of Biomed. Sci., 3Intractable Dis. Ctr., Saitama Med. Univ. Hosp.

EO2-3 The mitophagy receptor Bcl-2-like protein 13 is essential for adipocyte differentiation by regulating mitochondrial oxidative phosphorylation and apoptosisMakoto Fujiwara1, Anyonya R. Guntur3, Clifford J. Rosen3, Keiichi Ozono1

1Dept. of Pediatr., Osaka Univ. Graduate Sch. of Medicine, 2First Dept. of Oral and Maxillofacial Surgery, Osaka Univ. Graduate Sch. of Dentistry, 3Center for Clinical and Translational Research, Maine Medical Center Research Institute

EO2-4 Isolated TSH deficient form of central congenital hypothyroidism may exist in a higher frequency than reportedAsako Tajima, Tomotaka Kono, Masahisa Tashiro, Haruhito Horita, Taro Sugai,  Hidetoshi Hagiwara, Shuichi Suzuki, Katsuya Aizu, Hiroshi Mochizuki

Div. of Metabolism and Endocrinology, Saitama Children's Medical CenterEO2-5 Clinical course of cytochrome P450 oxidoreductase deficiency in Japan: a

nationwide surveyShuichi Yatsuga1, Naoko Amano2, Akari Utsunomiya3, Hironori Kobayashi4, Kei Takazawa5, Keisuke Nagasaki6, Akie Nakamura7, Satsuki Nishigaki8, Chikahiko Numakura9,  Ikuma Fujiwara10, Kanshi Minamitani11, Tomonobu Hasegawa2, Toshihiro Tajima12

1Dept. of Pediatr. and Chidl Health, Kurume Univ. Sch. of Med., 2Dept. of Pediatr., Keio Univ., 3Dept. of Pediatr., Hiroshima Univ., 4Dept. of Pediatr., Shimane Univ., 5Dept. of Pediatr., Tokyo Medical and Dental Univ., 6Dept. of Pediatr., Niigata Univ, 7Dept. of Pediatr., Hokkaido Univ, 8Dept. of Pediatr., Osaka City Univ., 9Dept. of Pediatr., Yamagata Univ., 10Dept. of Pediatr., Sendai City Hosp., 11Dept. of Pediatr., Teikyo University Chiba Medical Center, 12Dept. of Pediatr., Jichi Medical Univ.

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English Oral session 3

September, 27(Fri.) 15:10 ～ 16:00 Room 4Chairs   Kenichi Kashimada（Department of Pediatrics and Developmental Biology, Tokyo Medical  

               and Dental University）   Akie Nakamura（Department of Pediatrics, Hokkaido University School of Medicine）

EO3-1 IGF2 Mutations: Report of Six Cases, Review of the Literature, and Phenotypic Comparison with H19-DMR EpimutationsYohei Masunaga1, Takanobu Inoue2, Kaori Yamoto1, Yasuko Fujisawa1, Yasuhiro Sato3,  Yuki Kawashima-Sonoyama4, Yasuhisa Ohata5, Noriyuki Namba5,6, Maki Fukami2,  Hirotomo Saitsu7, Masayo Kagami2, Tsutomu Ogata1

1Dept. of Pediatr., Hamamatsu Univ. Sch. of Med., 2Dept. of Mol. Endocrinol., Natl. Res. Inst. for Child Health and Devel., 3Dept. of Pediatr., Teikyo Univ. Sch. of Med., 4Div. of Pediatr. and Perinatol., Faculty of Med. Tottori Univ., 5Dept. of Pediatr., Osaka Univ. Grad. Sch. of Med., 6Dept. of Pediatr., Osaka Hosp., Japan Com. Healthcare Org. （JCHO）, 7Dept. of Biochem., Hamamatsu Univ. Sch. of Med.

EO3-2 Thyroid disorders in childhood cancer survivors after radiation exposureCindy Ho1, Yee Sian Tiong3, Edwin, Yuen Hao Tong6, Kah Yin Loke1,2, Rajeev Parameswaran5,  Chia Ching Lee4, Timothy Cheo4, Samantha Yang3 

1 Khoo Teck Puat- National University Children’s Medical  Institute, National University Health System, Singapore, 

2 Department  of Paediatrics, Yong Loo Lin School  of Medicine, National University  of Singapore, Singapore, 

3Department of Endocrinology, National University Health System, Singapore, 4Department of Radiation Oncology, National University Health System, 5Department of Endocrine Surgery, National University Health System, Singapore, 6University of Aberdeen

EO3-3 The prevalence of maternal microchimerism in Japanese children with type 1 diabetes is lower than that of Caucasian patients with type 1 diabetes.Kikumi Ushijima1,2, Nobuyuki Kikuchi2,3, Toru Kikuchi2,4, Tomoyuki Kawamura2,5,  Tatsuhiko Urakami2,6, Shin Amemiya2,4, Tsutomu Ogata2,7, Ichiro Yokota2,8,  Shigetaka Sugihara2,9, Maki Fukami1,2

1Dept. of Molecular Endocrinology, Nat'l Res. Inst. for Child Health and Development, 2The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, 3Dept. of Pediatr., Yokohama Rosai Hosp., 4Dept. of Pediatr., Saitama Medical Univ., 5Dept. of Pediatr., Osaka City Univ. Sch. of Med., 6Dept. of Pediatr., Nihon Univ. Sch. of Med., 7Dept. of Pediatr., Hamamatsu Univ. Sch. of Med., 8Dept. of Pediatr., Shikoku Medical Center for Children and Adults, 9Dept. of Pediatr., Tokyo Women's Medical Univ. Medical Center East

EO3-4 Effectiveness of incretin-based therapies in children with slowly progressive type 1 diabetes at the early stage of diabetesTatsuhiko Urakami, Kouichirou Hara, Kei Yoshida, Yusuke Mine, Remi Kuwahara,  Masako Aoki, Yuriko Abe, Junichi Suzuki, Ichirou Morioka

Dept. of Pediatr., Nihon Univ. Sch. of Med.EO3-5 The functional rescue of dominant WFS1 mutants in vitro

Khishigjargal Batjargal, Eriko Jimbo, Tajima ToshihiroDepartment of Pediatrics, Jichi Medical University

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Information and Program in English

Poster presentation 24 English Poster 1

September, 27(Fri.) 17:50 ～ 18:30 Poster venueChairs   Hideyuki Iwayama（Department of Pediatrics, Aichi Medical University School of Medicine） 

  Sachiko Kitanaka（Kitanaka Kids & Growth Clinic）

P2-24-185 Cortisol/ACTH and Aldosterone/PRA ratio are useful for distinguishing between patients with classical 21OHD and those with false positive resultsYasuko Ogiwara, Yukihiro Hasegawa

Div. of Endocrinol. and Metab., Tokyo Metropolitan Children’s Medical CenterP2-24-186 A case of homozygous familial hypobetalipoproteinemia associated

with chronic liver dysfunctionTakeru Yamauchi1,2, Kei Takasawa1, Yoshichika Maeda1, Manabu Takahashi3,  Tomohiro Morio1, Shun Isibashi3, Kennichi Kashimada1

1Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental   University, 2Center for Maternal, Fetal and Neonatal Medicine, Kyoto University Hospital,  3 Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, School of Medicine

P2-24-187 Abnormal water-sodium metabolism in acute encephalopathy in childhood: focused on the relationship between endocrinological disorders and magnetic resonance findings.Tadashi Moriwake, Takahiro Shiwaku, Takahiro Myoi, Yuko Okabayashi,  Kousuke Kunichika, Hiroaki Ochi, Fumiko Shinji, Yuka Ando, Keisuke Takada

Department of Pediatrics, National Hospital Organization Iwakuni Clinical CenterP2-24-188 Can early start of GH treatment improve adult height in GHD?

Toshiaki Tanaka1, Shun Soneda1,2, Atsuko Ogasawara1,3, Naoko Sato1,4, Kentaro Kishi1,5, Masahiro Noda1,6

1Tanaka Growth Clinic, 2St. Marianna University School of Medicine  3Ibaraki Children’s Hospital,  4Tokyo University, Department of Pediatrics,  5Tachibanadai Clinic, 6Showa General Hospital, Department of Pediatrics

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P2-24-189 INCREASE TREND IN PROPORTIONS OF OBESITY IN JAPANESE PAEDIATRIC PATIENTS WITH TYPE 1 DIABETESMie Mochizuki1,2, Toru Kikuchi2,3, Yoshiya Ito2,4, Ikuma Musha2,3, Makoto Anzo2,5, Kumihiro Matsuo2,6, Shun Soneda2,7, Koji Kobayashi1,2, Hiroshi Yokomihci2,8,  Ichiro Yokota2,9, Tomoyuki Kawamura2,10, Nobuyuki Kikuchi2,11, Tatsuhiko Urakami2,12, Nobuo Matsuura2,13, Nozomu Sasaki2,3, Shin Amemiya2,14, Shin Amemiya2,3

1Dept. of Pediatr., Univ. of Yamanashi,  2 the Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes, 

3Dept. of Pediatr., Saitama Med. Univ.,  4Japanese Red Cross Hokkaido College of Nursing,  5Dept. of Pediatr., Tokyo Metropolitan Ohtsuka Hosp.,  6Dept. of Pediatr., Monbetsu Hosp.,  7Dept. of Pediatr., St. Marianna Univ. Sch. of Med.,  8Dept. of Health Sciences, Univ. of Yamanashi,  9Shikoku Medical Center for Children and Adults,  10Osaka City Univ. Graduate Sch. of Med,  11Dept. of Pediatr., Yokohama City Univ.,  12Dept. of Pediatr. and Child Health, Nihon Univ. Sch. of Med.,  13Dept. of Pediatr., Bibai City Hosp.,  14Dept. of Pediatr., Tokyo Women’s Medical Univ. Medical Center East

P2-24-190 Prenatal genetic counseling for fetus having suspected ambiguous genitaliaTakeshi Sato1,2, Yousuke Ichihashi1,2, Satoshi Tamaoka1, Tomohiro Ishii1,2, Mariko Hida1, Yu Yamaguchi3, Daigo Ochiai4, Hiroshi Asanuma2,5, Tatsuo Kuroda2,6,  Tomonobu Hasegawa1,2

1Dept. of Pediatr., Keio Univ. Sch. of Med.,  2The center for differences of sex development, Keio Univ. Hosp.,  3Dept. of Medical Genetics, Gunma Children's Medical Center,  4Dept. of Gynecology, Keio Univ. Sch. of Med.,  5Dept. of Urology, Keio Univ. Sch. of Med.,  6Dept. of Pediatric Surgery, Keio Univ. Sch. of Med.

P2-24-191 A case of 5 years-old boy with type 1 diabetes mellitus and autoimmune hepatitisYoko Kina1, Toshifumi Yodoshi2, Shiuichiro Umetsu3, Junko Igaki1

1 Dept. of Pediatr., Endoclinology and Metabolism, Okinawa pref. Nanbu Medical Center & Children's Medical Center, 

2 Dept. of Pediatr., Okinawa Chubu Hosp.（Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hosp. Medical Center）, 

3 Dept. of Pediatr. Hepatology and Gastroenterology, Saiseikai Yokohamashi Tobu Hospital

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Information and Program in English

Poster presentation 32 English Poster 2

September, 27(Fri.) 18:35 ～ 19:15 Poster venueChairs   Masahiko Kawai（Center for Maternal, Fetal and Neonatal Medicine, Kyoto University  

          Hospital）   Rumi Hachiya（ Division of Endocrinology and Metabolism, Tokyo Metoropolitan Children's 

Hospital）

P2-32-247 Clinical study on factors relevant to metabolic syndrome in obese children with Achondroplasia and HypochondroplasiaYukako Nakano, Taichi Kitaoka, Kei Miyata, Kenichi Yamamoto, Shinji Takeyari, Hirofumi Nakayama, Makoto Fujiwara, Yasuhisa Ohata, Takuo Kubota, Keiichi Ozono

Dept. of Pediatr, Osaka University, Graduate Sch. of MedP2-32-248 Clinical and genetic aspects of mild hypophosphatasia in Japanese

patients.Yoko Nakajima1, Katsuyuki Yokoi1, Yoshimi Sano2, Hiroki Kurahashi3,  Tetsushi Yoshikawa1, Tetsuya Ito1

1Dept Pediatr., Fujita Health Univ. Sch. of Med.,  2Div. of Pediat. Dentistry, Fujita Health Univ. Sch. of Med.,  3Div. Mol. Genet.  Inst.for Comprehensive.Med. Sci., Fujita Health Univ.

P2-32-249 Development of triplex assay of TSH, FT4 and 17OHP and its evaluation of newborn screening for congenital hypothyroidism and congenital adrenal hyperplasiaMasaru Fukushi1, Chiyoko Yoshii2, Takuya Yamagishi3

1Sapporo Immuo Diagnostic Laboratory,  2Hiroshima city Medical Association Clinical laboratory,  3Sapporo City Institute of Public Health, Sapporo

P2-32-250 Japanese pediatric bone age assessment system using convolutional neural networks.Yousuke Higuchi1, Kyohei Takahashi2, Yuki Ebuchi1, Mahoko Furujo1, Toshihide Kubo1

1Dept. of Pediatr., NHO Okayama Medical Center,  2Dept. of Pediatr., NHO Sagamihara National Hospital

P2-32-251 A patient with cytochrome P450 oxidoreductase deficiency who was not detected by neonatal screeningMasayo Yamazaki, Makiko Oguma, Toshihiro Tajima, Takanori Yamagata

Dept. of Pediatr., Jichi Med. Univ.P2-32-252 Subacute thyroiditis presenting with creeping thyroiditis in a six-year-

old boyTatsuro Nakamura1, Haruna Kakimoto2, Jun Nagahama1, Satoshi Morita2,  Michiyo Mizota2, Jiro Iwamoto1

1Dept. of Pediatr., Tanegashima Medical Center,  2Dept. of Pediatr., Kagoshima Univ. Sch. of Med.

P2-32-253 An Adolescent Girl Presented with Hoarseness of VoiceHo-chung YAU

Department of Paediatrics, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong